Knowledge base for genomic medicine in Japanese
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マルファン症候群
Excelでダウンロード最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。
https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Deletion | NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) | FBN1 | Pathogenic | 15 | 48719928 | 48719929 | CAT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA016944 |
| single nucleotide variant | NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp) | FBN1 | Likely pathogenic | 15 | 48719965 | 48719965 | G | A | reviewed by expert panel | - |
| single nucleotide variant | NM_000138.5(FBN1):c.6871+1G>T | FBN1 | Pathogenic | 15 | 48722867 | 48722867 | C | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_000138.5(FBN1):c.6871G>A (p.Asp2291Asn) | FBN1 | Pathogenic | 15 | 48722868 | 48722868 | C | T | criteria provided, single submitter | ClinGen:CA016793 |
| single nucleotide variant | NM_000138.5(FBN1):c.6752G>A (p.Cys2251Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48722987 | 48722987 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016730 |
| Duplication | NM_000138.5(FBN1):c.6722_6725dup (p.Arg2243fs) | FBN1 | Pathogenic | 15 | 48725076 | 48725077 | A | ACGGT | criteria provided, single submitter | ClinGen:CA304354 |
| single nucleotide variant | NM_000138.5(FBN1):c.6656T>G (p.Phe2219Cys) | FBN1 | Likely pathogenic | 15 | 48725146 | 48725146 | A | C | criteria provided, single submitter | ClinGen:CA016615 |
| single nucleotide variant | NM_000138.5(FBN1):c.6650G>A (p.Cys2217Tyr) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48725152 | 48725152 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016598 |
| single nucleotide variant | NM_000138.5(FBN1):c.6630T>A (p.Cys2210Ter) | FBN1 | Pathogenic | 15 | 48725172 | 48725172 | A | T | criteria provided, single submitter | ClinGen:CA016582 |
| single nucleotide variant | NM_000138.5(FBN1):c.6628T>C (p.Cys2210Arg) | FBN1 | Pathogenic/Likely pathogenic | 15 | 48725174 | 48725174 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA016575 |
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